G138V (p.Gly138Val) variant of SDHD (O14521)
G138V (p.Gly138Val) in SDHD (O14521) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Paragangliomas with sensorineural hearing loss; Pheochromocytoma; Cowden syndrom. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
G138V (p.Gly138Val) variant details
- p.Gly138Val
- rs1401695686
- ClinGen CA382619290
- ClinVar RCV002526127
- ClinVar RCV003999154
- Conflicting interpretations
- Paragangliomas with sensorineural hearing loss; Pheochromocytoma; Cowden syndrom
- Missense
- Variant Prioritization Score for Impact Estimate 0.929
- AlphaMissense 0.76
- MetaLR 0.99
- MetaSVM 1.00
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.93
- ClinVar: Conflicting classifications of pathogenicity (Paragangliomas with sensorineural hearing loss; Pheochromocytoma)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)
- Cited in: Genetics of Endocrine and Neuroendocrine Neoplasias (PDQ®): Health Professional Version. (PMID 26389271)